Canonical Allele Identifier: CA138267
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46404
dbSNP Id: rs200792658
gnomAD v2: 5-90012539-G-A
gnomAD v3: 5-90716722-G-A
gnomAD v4: 5-90716722-G-A
COSMIC: COSM41101

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90716722G>A , CM000667.2:g.90716722G>A GRCh38
NC_000005.9:g.90012539G>A , CM000667.1:g.90012539G>A GRCh37
NC_000005.8:g.90048295G>A NCBI36
NG_007083.1:g.162923G>A
NG_007083.2:g.192379G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.9440G>A MANE Select ENSP00000384582.2:p.Arg3147Gln
ENST00000639431.1:c.265+40513G>A ENSP00000491057.1:n.265+40513G>A
ENST00000639473.1:n.4899G>A
ENST00000640374.1:n.2584G>A
ENST00000640779.1:c.4169G>A
ENST00000405460.6:c.9440G>A ENSP00000384582.2:p.Arg3147Gln
ENST00000509621.1:c.2137G>A
NM_032119.3:c.9440G>A NP_115495.3:p.Arg3147Gln
NR_003149.1:n.9453G>A
XM_011543675.1:c.9437G>A XP_011541977.1:p.Arg3146Gln
XM_011543676.1:c.9359G>A XP_011541978.1:p.Arg3120Gln
XM_011543677.1:c.6743G>A XP_011541979.1:p.Arg2248Gln
XM_011543678.1:c.9440G>A XP_011541980.1:p.Arg3147Gln
XM_011543679.1:c.9440G>A XP_011541981.1:p.Arg3147Gln
XR_948560.1:n.272-913C>T
NM_032119.4:c.9440G>A MANE Select NP_115495.3:p.Arg3147Gln
XM_017009963.2:c.9461G>A XP_016865452.1:p.Arg3154Gln
XM_017009964.2:c.9458G>A XP_016865453.1:p.Arg3153Gln
XM_017009965.1:c.9458G>A XP_016865454.1:p.Arg3153Gln
XM_017009966.2:c.9380G>A XP_016865455.1:p.Arg3127Gln
XM_017009967.1:c.9365G>A XP_016865456.1:p.Arg3122Gln
XM_017009968.2:c.9461G>A XP_016865457.1:p.Arg3154Gln
XM_017009969.2:c.9461G>A XP_016865458.1:p.Arg3154Gln
XM_017009970.2:c.9461G>A XP_016865459.1:p.Arg3154Gln
XM_017009971.2:c.9461G>A XP_016865460.1:p.Arg3154Gln
XM_017009972.1:c.2579G>A XP_016865461.1:p.Arg860Gln
XM_017009973.1:c.2558G>A XP_016865462.1:p.Arg853Gln
XM_017009974.2:c.9461G>A XP_016865463.1:p.Arg3154Gln
XR_001742802.1:n.2523-913C>T
NR_003149.2:n.9456G>A